The population genetics of the Jewish people

Abstract

Adherents to the Jewish faith have resided in numerous geographic locations over the course of three millennia. Progressively more detailed population genetic analysis carried out independently by multiple research groups over the past two decades has revealed a pattern for the population genetic architecture of contemporary Jews descendant from globally dispersed Diaspora communities. This pattern is consistent with a major, but variable component of shared Near East ancestry, together with variable degrees of admixture and introgression from the corresponding host Diaspora populations. By combining analysis of monoallelic markers with recent genome-wide variation analysis of simple tandem repeats, copy number variations, and single-nucleotide polymorphisms at high density, it has been possible to determine the relative contribution of sex-specific migration and introgression to map founder events and to suggest demographic histories corresponding to western and eastern Diaspora migrations, as well as subsequent microevolutionary events. These patterns have been congruous with the inferences of many, but not of all historians using more traditional tools such as archeology, archival records, linguistics, comparative analysis of religious narrative, liturgy and practices. Importantly, the population genetic architecture of Jews helps to explain the observed patterns of health and disease-relevant mutations and phenotypes which continue to be carefully studied and catalogued, and represent an important resource for human medical genetics research. The current review attempts to provide a succinct update of the more recent developments in a historical and human health context.

Fig. 1

Principal components 1 and 2 analysis of major central cluster of Jewish populations combined with other Old World populations (indicated by different colored balls). Figure based on data in Behar et al. (2010), which also provides and illustrates the data for subjects remote from the major central cluster. Blow-up of data for Jewish, European, and Middle Eastern populations is also shown

Fig. 2

Neighbor-joining tree showing the relationship of European, Jewish, Middle Eastern, and North African populations, using Fst as the distance metric. The neighbor-joining algorithm used Fst as the distance metric input for calculation of a matrix specifying the distance between each pair of groups and then iterates until the tree is resolved and branch lengths discerned. The tree was rooted using the reference mixed Central and Southern African population as an out-group. Major population groups are labeled at the right

Fig. 3

Genome-wide identity-by-descent (IBD) sharing for the average pair of individuals within (a left) and across populations (a right, b). Genome-wide IBD analysis estimates kinship based on sharing of DNA sequence segment similarities as determined by variable sites across the genome. With the exception of non-Jewish Tunisian samples, IBD sharing is higher within Jewish groups, reflecting higher levels of endogamy. Jewish populations exhibit higher sharing with other Jewish populations than with geographically near groups. The average total sharing across Jewish populations is generally higher than the sharing across other population pairs